Interstitial del(13q) associated with blindness and mental retardation

Am J Med Genet. 1984 Mar;17(3):609-13. doi: 10.1002/ajmg.1320170309.

Abstract

Blindness due to congenital falciform retinal folds and severe mental retardation were present in a male with an interstitial deletion, 46,XY, del(13) (q31.2q32.3).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Blindness / congenital
  • Blindness / genetics*
  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, 13-15*
  • Dermatoglyphics
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male